NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) AND Choroidal dystrophy, central areolar 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 1996
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014071.39
Allele description [Variation Report for NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)]
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
Condition(s)
-
PRJNA576333 (6)
Nucleotide
-
hypothetical protein [Paraburkholderia caribensis]
hypothetical protein [Paraburkholderia caribensis]gi|2286442259|ref|WP_257722183.1|Protein
-
Sabellaria spinulosa voucher MZPA-ANN-003 cytochrome oxidase subunit I (COI) gen...
Sabellaria spinulosa voucher MZPA-ANN-003 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|826451932|gb|KR013049.1|Nucleotide
-
PREDICTED: short-chain dehydrogenase/reductase 3 [Bos indicus]
PREDICTED: short-chain dehydrogenase/reductase 3 [Bos indicus]gi|1131183715|ref|XP_019831986.1|Protein
-
STAT5-HKRR [Load driver vector pLDBUF]
STAT5-HKRR [Load driver vector pLDBUF]gi|700589500|gb|AIU94971.1|Protein
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Last Updated: Oct 13, 2024